TY - JOUR
T1 - Function of the sex chromosomes in mammalian fertility
AU - Heard, Edith
AU - Turner, James
N1 - Generated from Scopus record by KAUST IRTS on 2021-03-16
PY - 2011/1/1
Y1 - 2011/1/1
N2 - The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome abnormalities and the commonest genetic cause of infertility in humans. Understanding how sex-gene expression is regulated is therefore critical to our understanding of human reproduction. Here, we describe how the expression of sex-linked genes varies during germ cell development; in females, the inactive X chromosome is reactivated before meiosis,whereas in males the X and Y chromosomes are inactivated at this stage.We discuss the epigenetics of sex chromosome inactivation and how this process has influenced the gene content of the mammalian X and Y chromosomes. We also present working models for how perturbations in sex chromosome inactivation or reactivation result in subfertility in the major classes of sex chromosome abnormalities. © 2012 Cold Spring Harbor Laboratory Press.
AB - The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome abnormalities and the commonest genetic cause of infertility in humans. Understanding how sex-gene expression is regulated is therefore critical to our understanding of human reproduction. Here, we describe how the expression of sex-linked genes varies during germ cell development; in females, the inactive X chromosome is reactivated before meiosis,whereas in males the X and Y chromosomes are inactivated at this stage.We discuss the epigenetics of sex chromosome inactivation and how this process has influenced the gene content of the mammalian X and Y chromosomes. We also present working models for how perturbations in sex chromosome inactivation or reactivation result in subfertility in the major classes of sex chromosome abnormalities. © 2012 Cold Spring Harbor Laboratory Press.
UR - http://cshperspectives.cshlp.org/lookup/doi/10.1101/cshperspect.a002675
UR - http://www.scopus.com/inward/record.url?scp=84864779894&partnerID=8YFLogxK
U2 - 10.1101/cshperspect.a002675
DO - 10.1101/cshperspect.a002675
M3 - Article
SN - 1943-0264
VL - 3
SP - 1
EP - 17
JO - Cold Spring Harbor perspectives in biology
JF - Cold Spring Harbor perspectives in biology
IS - 10
ER -